| 1 | FGFR1, HRTFDS |
| FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly. | |
| Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. | |
| J Med Genet 50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. 2013 | |
| 2 | FGFR1, HRTFDS |
| Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review. | |
| Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C. | |
| Am J Med Genet A 149A(7):1476-81. doi: 10.1002/ajmg.a.32678. Review. 2009 | |